Results 71 to 80 of about 306 (158)

Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria. [PDF]

J Cancer Res Clin Oncol, 2023
Haverkamp T, Bronisch O, Knösel T, Mogler C, Weichert W, Stauch T, Schmid C, Rummeny C, Beykirch MK, Petrides PE.   +9 more
europepmc   +1 more source

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype. [PDF]

Genes (Basel), 2023
Neuckermans J, Lequeue S, Claes P, Heymans A, Hughes JH, Colemonts-Vroninks H, Marcélis L, Casimir G, Goyens P, Martens GA, Gallagher JA, Vanhaecke T, Bou-Gharios G, De Kock J.   +13 more
europepmc   +1 more source

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1). [PDF]

Mol Genet Genomic Med, 2023
Chi H, Gan C, Jiang Y, Chen D, Qiu J, Yang Q, Chen Y, Wang M, Yang H, Jiang W, Li Q.   +10 more
europepmc   +1 more source

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia. [PDF]

Orphanet J Rare Dis, 2021
Sethuram S, Sperling MA, Gujral J, Romero CJ.   +3 more
europepmc   +1 more source

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1. [PDF]

Am J Case Rep
Bruno R, Donatelli S, Mastropasqua L, Nubile M.   +3 more
europepmc   +1 more source

Tyrosinemia

Discussion of Clinical Cases, 2015
Chen Hua, Jin-li Hao, Xin Wang, Hong Cui, Ya-jing Zhang   +4 more
openaire   +2 more sources

The Multifaceted Aspects of Clinical Nutrition-An Introduction to Hot Topics in Clinical Nutrition (2nd Edition). [PDF]

Nutrients
Rinninella E, Ceci C, Gasbarrini A.
europepmc   +1 more source

Clinical experience with hepatorenal tyrosinemia from a single Egyptian center. [PDF]

PLoS One, 2022
El-Karaksy H, Abdullatif HM, Ghobrial CM, Mogahed EA, Yasin NA, Talal N, Rashed M.   +6 more
europepmc   +1 more source

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights. [PDF]

Int J Mol Sci
Saraceno E, Serra I, Bracci B, Pagliardini V, Pinon M, Tuli G, Versace A, Bondone C, Spada M.   +8 more
europepmc   +1 more source

UK Dietary Practices for Tyrosinaemias: Time for Change. [PDF]

Nutrients, 2022
Daly A, Adam S, Allen H, Ash J, Dale C, Dixon M, Dunlop C, Ellerton C, Evans S, Firman S, Ford S, Freedman F, Gribben J, Howe S, Khan F, McDonald J, McStravick N, Nguyen P, Oxley N, Skeath R, Simpson E, Terry A, Woodall A, White L, MacDonald A, British Inherited Metabolic Diseases Group (BIMDG) Dietitians Group.   +25 more
europepmc   +1 more source